Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851191_135851195delinsTATAA , CM000664.2:g.135851191_135851195delinsTATAA | GRCh38 |
| NC_000002.11:g.136608761_136608765delinsTATAA , CM000664.1:g.136608761_136608765delinsTATAA | GRCh37 |
| NC_000002.10:g.136325231_136325235delinsTATAA | NCBI36 |
| NG_008104.2:g.8975_8979delinsTTATA , LRG_338:g.8975_8979delinsTTATA | |
| NG_008958.1:g.30247_30251delinsTTATA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+207_1917+211delinsTTATA MANE Select | ENSP00000264156.2:n.1917+207_1917+211deli... | |
| ENST00000264156.2:c.1917+207_1917+211delinsTTATA | ENSP00000264156.2:n.1917+207_1917+211deli... | |
| ENST00000483902.1:n.544+207_544+211delinsTTATA | ||
| ENST00000492091.1:n.343+207_343+211delinsTTATA | ||
| NM_005915.5:c.1917+207_1917+211delinsTTATA | NP_005906.2:n.1917+207_1917+211delinsTTAT... | |
| NM_005915.6:c.1917+207_1917+211delinsTTATA MANE Select | NP_005906.2:n.1917+207_1917+211delinsTTAT... |